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探讨美国孕妇对产前检测的偏好:一项离散选择实验。

Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment.

机构信息

Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.

Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, UK.

出版信息

J Genet Couns. 2024 Jun;33(3):699-708. doi: 10.1002/jgc4.1777. Epub 2023 Aug 30.

Abstract

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey-based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS-12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options.

摘要

尽管诊断性产前检测(如胎儿外显子组测序)有许多好处,但也存在一些后果,包括可能会收到不确定意义的变异或识别次要发现的可能性。在这项研究中,我们利用基于调查的离散选择实验来了解北加州孕妇对假设性产前基因组检测的偏好。通过社交媒体上的广告邀请孕妇完成调查。研究了五个测试属性:获得结果的可能性、获得结果所需的时间、谁解释结果、不确定结果的报告和次要发现的报告。该调查还收集了参与者的人口统计学信息、当前和过去的怀孕情况,以及使用 IUS-12 量表衡量的不确定性容忍度。如果参与者是女性,目前怀孕 24 周或以上,并且能够阅读/书写足够的英语或西班牙语来完成在线调查,则有资格参与。总的来说,参与者(n=56)更喜欢进行产前检测(p<0.01),而不是不进行产前检测,并且对具有最高获得结果可能性的检测有更高的偏好(p<0.01)。对于报告次要发现的检测(p=0.01)和由遗传专家(而非产前提供者)报告结果的检测(p=0.04)也有积极的偏好。这些发现可以用于指导孕妇和遗传专家(如遗传咨询师)之间的对话,帮助他们权衡诊断性产前检测选项的利弊。

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